EIF3A and EIF3B variants cause an autosomal cardiovascular, craniofacial, and neurodevelopmental disorder
A new study published in American Journal of Medical Genetics (Part A) characterized heterozygous de novo or loss-of-function variants in EIF3A or EIF3B genes, coding core subunits of the translation initiation eIF3 complex, which plays a critical role in the initiation of protein synthesis. The variants were found among 18 individuals, suffering from a varied clinical phenotype, predominantly including cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Various analyses suggested that variants in the EIF3A and EIF3B genes cause congenital anomalies and that this should be considered in the differential diagnosis of individuals presenting with congenital heart disease.
- Am J Hum Genet. 2025 Nov 6;112(11):2625-2642